Leopard syndrome: case report

Abstract

Leopard syndrome is a rare genetic disease, characterized by the acronym: L= lentigines, E= electrocardiographic changes, O= ocular (hypertelorism), P= pulmonary (stenosis), A= abnormality of genitalia, R= growth retardation and D= deafness. Its prognosis is favorable and depends on the associated anomalies. To report shows a case of a patient attended the dermatological clinic with the characteristics of Leopard Syndrome. The information was obtained through a review of the medical record, interview with the patient and companion, photographic registry of the dermatological alterations presented to the physical examination and review of the literature. The pathogenesis involves mutation of the PTPN11 (Shp2) gene. The diagnosis is clinical, with confirmation by genetic study and complementary tests. In addition to the multiple lentiginous lesions, two other systemic abnormalities are required. The treatment requires photo protection and control of the systemic abnormalities. The patient has multiple lentigines and specific systemic alterations: cardiologic, short stature, ophthalmologic, and neurodevelopmental retardation.